ClinicalTrials.gov record NCT05432349

Rett Syndrome Registry

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Rett Syndrome Real World Data Observational Registry

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
AgeUnder 1 month old to 99 years old
SexAll
LocationUnited States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

A prospective, long-term observational registry that collects clinical information about people with Rett syndrome. Data are reported by Rett experts and by caregivers. The study aims to inform consensus care guidelines and help design future clinical trials and drug-development efforts.

What it is studying. The study is gathering longitudinal data to define the natural history and clinical spectrum of MECP2-related Rett syndrome, including disease course and complications over time.

What the researchers hope to learn. To define the natural history and clinical spectrum of MECP2-related Rett syndrome, to support development of consensus care guidelines, and to inform the design of future clinical trials and drug development.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • Male or female with a pathologic loss of function alteration of MECP2

Exclusion criteria

  • Male or female with a gain of function alteration of MECP2, including those with MEPC2 duplication or triplication

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Clinicians and caregivers provide periodic information about signs, symptoms, and medical history. The study follows participants prospectively for up to 5 years to document the natural history of MECP2 loss-of-function conditions. Participation involves submitting clinical reports and caregiver questionnaires; the registry record does not specify invasive procedures or assigned treatments.

How the study is structured. A prospective observational registry (cohort) that follows participants for up to five years. No treatments are assigned; the study collects clinical information and caregiver-reported signs and symptoms over time.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Rett syndrome

Clinical trials20 trials listed for Rett syndromeEvery trial the registry lists for Rett syndrome, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Rett syndrome researchLatest monthly update: September 2026. Includes: Seizure add-on drug. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Aug 2, 2022
Primary completion
July 2027 (estimated)
Study completion
July 2028 (estimated)
Target enrollment
3000 participants (estimated)
Last updated on registry
Jun 30, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
International Rett Syndrome Foundation
Collaborators
  • Boston Children's Hospital
  • Children's Health UTSW
  • Children's Hospital Colorado
  • Children's Hospital of Philadelphia
  • Gillette Children's Specialty Healthcare
  • Greenwood Genetic Center
  • Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
  • Rush University
  • St. Louis Children's Hospital
  • Baylor College of Medicine
  • University of Alabama at Birmingham
  • UCSF Benioff Children's Hospital Oakland
  • Vanderbilt University Medical Center
  • Hive Networks
  • Nationwide Children's Hospital
  • Children's Hospital Medical Center, Cincinnati
  • Nicklaus Children's Hospital
  • University of North Carolina, Chapel Hill
  • Children's Hospital Los Angeles
  • Rady Children's Hospital, San Diego

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (19)

Terms used on this page · explanations by MedicalUpdates.ai

Registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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